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GCTGATATCGATTTTGGTTGAAGTG[G/A]CAATGACAAATTTCTGGTGTGTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603703 | ||||||||||||||||||||||||||||||||
Literature Links: |
RPL6 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
RPL6 - ribosomal protein L6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000970.4 | 866 | Intron | NP_000961.2 | |||
NM_001024662.2 | 866 | Intron | NP_001019833.1 | |||
NM_001320137.1 | 866 | Intron | NP_001307066.1 | |||
NM_001320138.1 | 866 | Missense Mutation | GCC,GTC | A,V 196 | NP_001307067.1 | |
NM_001320139.1 | 866 | Intron | NP_001307068.1 | |||
NM_001320140.1 | 866 | Missense Mutation | GCC,GTC | A,V 196 | NP_001307069.1 | |
NM_001320141.1 | 866 | Missense Mutation | GCC,GTC | A,V 196 | NP_001307070.1 | |
NM_001320142.1 | 866 | Intron | NP_001307071.1 | |||
XM_017019781.1 | 866 | Missense Mutation | GCC,GTC | A,V 196 | XP_016875270.1 | |
XM_017019782.1 | 866 | Intron | XP_016875271.1 |
Set Membership: |
HapMap |